The Experts below are selected from a list of 324 Experts worldwide ranked by ideXlab platform
Judith Melki - One of the best experts on this subject based on the ideXlab platform.
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Spinal muscular atrophy: Recent advances and future prospects
Muscle & Nerve, 2002Co-Authors: Sophie Nicole, Tony Frugier, Carmen Cifuentes Diaz, Judith MelkiAbstract:Spinal muscular atrophies (SMA) are characterized by degeneration of lower motor neurons associated with muscle paralysis and atrophy. Childhood SMA is a frequent recessive Autosomal Disorder and represents one of the most common genetic causes of death in childhood. Mutations of the SMN1 gene are responsible for SMA. The knowledge of the genetic basis of SMA, a better understanding of SMN function, and the recent generation of SMA mouse models represent major advances in the field of SMA. These are starting points towards understanding the pathophysiology of SMA and developing therapeutic strategies for this devastating neurodegenerative disease, for which no curative treatment is known so far. © 2002 Wiley Periodicals, Inc. Muscle Nerve 26: 4–13, 2002
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The molecular bases of spinal muscular atrophy.
Current Opinion in Genetics & Development, 2002Co-Authors: Tony Frugier, Sophie Nicole, Carmen Cifuentes-diaz, Judith MelkiAbstract:Abstract Spinal muscular atrophy (SMA) is a common recessive Autosomal Disorder characterized by degeneration of motor neurons of the spinal cord. SMA is caused by mutations of the survival of motor neuron gene that encodes a multifunctional protein, and mouse models have been generated. These advances represent starting points towards an understanding of the pathophysiology of this disease and the design of therapeutic strategies in SMA.
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Spinal muscular atrophy1
Seminars in Pediatric Neurology, 2002Co-Authors: Carmen Cifuentes-diaz, Tony Frugier, Judith MelkiAbstract:Spinal muscular atrophies (SMA) are characterized by degeneration of lower motor neurons associated with muscle paralysis and atrophy. Childhood SMA is a common recessive Autosomal Disorder and represents one of the most common genetic causes of death in childhood. The pathophysiology remains unknown, and no curative treatment is available so far. The last 10 years have seen major advances in the field of SMA, which are starting points towards understanding the SMA pathogenesis and developing therapeutic strategies for this devastating neurodegenerative disease.
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The Role of the SMN Gene in Proximal Spinal Muscular Atrophy
Human Molecular Genetics, 1998Co-Authors: Suzie Lefebvre, Lydie Burglen, Jean Frézal, Arnold Munnich, Judith MelkiAbstract:Childhood spinal muscular atrophy (SMA) is a common recessive Autosomal Disorder that results in degeneration of lower motor neurons. The identification of the disease gene, Survival of Motor Neuron (SMN), was a major advance in understanding the molecular basis underlying this devastating neuromuscular disease. This finding has greatly improved the genetic counselling of SMA families. Recently, biochemical studies demonstrated its involvement in the biogenesis of spliceosomal snRNPs, suggesting a critical role of SMN in RNA processing. Surprisingly, other studies showed a putative role of SMN in an anti-apoptotic pathway involving Bcl-2. The function of SMN protein is not fully understood. These observations emphasized the difficulty in elucidating the function of any novel protein. Therefore, multidisciplinary approaches are required to understand the pathogenesis of SMA.
Guinto Cheick Oumar - One of the best experts on this subject based on the ideXlab platform.
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Type 2 Gaucher's disease in a Malian family.
African journal of health sciences, 2020Co-Authors: Moussa Traoré, Mariam Sylla, Jeannette Traoré, Toumani Sidibé, Guinto Cheick OumarAbstract:Gaucher's disease is a recessive Autosomal Disorder caused by an inherited deficiency of betaglucocerebrosidase. We report here the case of an 8 month old child, fourth in a family of four children, who presents the neuropathic form of the disease. The dosages of betaglucosidase activity using C (14 ) techniques have confirmed the diagnosis, and allowed the detection of the disease in the elder brother. Both parents were considered as responsible for the transmission of this disease to their progeny. The type 2 Gaucher's disease is rare in black population, and may be associated with phenotypes heterogeneity.
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Type 2 Gaucher's disease in a Malian family.
African Journal of Health Sciences, 2005Co-Authors: Moussa Traoré, Mariam Sylla, Jeannette Traoré, Toumani Sidibé, Guinto Cheick OumarAbstract:Gaucher's disease is a recessive Autosomal Disorder caused by an inherited deficiency of betaglucocerebrosidase. We report here the case of an 8 month old child, fourth in a family of four children, who presents the neuropathic form of the disease. The dosages of betaglucosidase activity using C14 techniques have confirmed the diagnosis, and allowed the detection of the disease in the elder brother. Both parents were considered as responsible for the transmission of this disease to their progeny. The type 2 Gaucher's disease is rare in black population, and may be associated with phenotypes heterogeneity. African Journal of Health Sciences Vol.11(1&2) 2004: 67-69
Thierry Bienvenu - One of the best experts on this subject based on the ideXlab platform.
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A Novel Missense Mutation A1081P in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Gene Identified in a Laotian Patient with Congenital Bilateral Absence of the Vas Deferens
Journal of Tropical Pediatrics, 2004Co-Authors: Angele Ngukam, Marie Line Jacquemont, Isabelle Souville, Marion Viel, Cherif Beldjord, Dominique Hubert, Jean-noël Hughes, Thierry BienvenuAbstract:: Cystic fibrosis is the most common Autosomal Disorder in the Caucasion population. However, the disease is rare in Asia and little is known about the spectrum of CF transmembrane conductance regulator, CFTR, mutations in this population. We studied a 39-year-old Loatian patient with congenital bilateral absence of the vas deferens and identified a novel missense mutation in exon 17b (3373G>C). Identification of novel mutations in this Asian population is of particular interest when designing a genetic testing strategy in Asian countries and also in other countries where immigration from Asia is common.
Palma Finelli - One of the best experts on this subject based on the ideXlab platform.
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Familial intragenic duplication of ANKRD11 underlying three patients of KBG syndrome.
Molecular Cytogenetics, 2015Co-Authors: Milena Crippa, Daniela Rusconi, Chiara Castronovo, Ilaria Bestetti, Silvia Russo, Anna Cereda, Angelo Selicorni, Lidia Larizza, Palma FinelliAbstract:Background KBG syndrome, a rare Autosomal Disorder characterised by distinctive craniofacial and skeletal features and developmental delay, is caused by haploinsufficiency of the ANKRD11 gene.
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Familial intragenic duplication of ANKRD11 underlying three patients of KBG syndrome
Molecular Cytogenetics, 2015Co-Authors: Milena Crippa, Daniela Rusconi, Chiara Castronovo, Ilaria Bestetti, Silvia Russo, Anna Cereda, Angelo Selicorni, Lidia Larizza, Palma FinelliAbstract:Background KBG syndrome, a rare Autosomal Disorder characterised by distinctive craniofacial and skeletal features and developmental delay, is caused by haploinsufficiency of the ANKRD11 gene. Results Here we describe two siblings with multiple symptoms characteristic of KBG and their mother with a milder phenotype. In the siblings, array-based comparative genomic hybridization (array CGH) identified an intragenic microduplication affecting ANKRD11 that was absent from the parents’ array CGH profiles. Microsatellite analysis revealed the maternal origin of the rearrangement and interphase fluorescent in situ hybridization (i-FISH) experiments identified the rearrangement in low-level mosaicism in the mother. Molecular characterisation of the duplication allele demonstrated the presence of two mutant ANKRD11 transcripts containing a premature stop codon and predicting a truncated non-functional protein. Conclusions Similarly to deletions and point mutations, this novel pathogenetic rearrangement causes haploinsufficiency of ANKRD11 , resulting in KBG syndrome.
A. H. Van Gennip - One of the best experts on this subject based on the ideXlab platform.
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Dihydropyridmidinase deficiency and congenital microvillous atrophy: Coincidence or genetic relation?
Journal of Inherited Metabolic Disease, 1997Co-Authors: B. Assmann, G. F. Hoffmann, L. Wagner, C. Bräutigam, H. W. Seyberth, M. Duran, A. B. P. Van Kuilenburg, R. Wevers, A. H. Van GennipAbstract:We describe a boy of consanguineous parents who suffered from intractable diarrhoea due to congenital microvillous atrophy, a recessively inherited Autosomal Disorder. He developed severe cholestatis starting at 2 weeks of age and leading to liver cirrhosis. His psychomotor development appeared only slightly delayed. At the age of 7 months he died due to septicaemia. In addition to disturbances of electrolyte balance and renal tubular function, which could be attributed to microvillous atrophy, marked elevations of dihydrouracil and dihydrothymine as well as moderately elevated excretion of uracil and thymine in urine were repeatedly demonstrated, suggesting a Disorder of pyrimidine degradation. An enzymatic defect of 5,6-dihydropyrimidine amidohydrolase (EC 3.5.2.2, dihydropyrimidinase, DHP) was demonstrated in liver biopsy. As both of these recessive Disorders seem to be extremely rare, it remains speculative, whether he suffered from two independently inherited metabolic diseases or whether this represents a hitherto undescribed contiguous gene syndrome.